Keywords
Diagnosis of exclusion - VATER - vertebral, anal, cardiac, tracheoesophagus, renal, and limbs
Introduction
VACTERL association is a constellation of vertebral (V), anal (A), cardiac (C), tracheoesophageal (TE), renal (R), and limb (L) anomalies in a single individual with an incidence of 1/10,000–1/40,000, approximately 1–9/100,000.[1]
Quan and Smith were the first to describe VATER association in 1973 which did not include cardiac and limb anomalies.[2] Later, Temtamy et al. suggested the inclusion of VSD and single umbilical artery in the V of VATER association.[3] Recently, VACTERL-H has been described by Zen et al. for associated hydrocephalus (H) in the newborn.[4]
The etiology of VACTERL is unknown and many cases occur sporadically. Several authors have suggested developmental defects during blastogenesis (2–4 weeks of gestation) which impair the formation of multiple organs simultaneously.[5] Environmental factors such as maternal diabetes mellitus, alcohol, and teratogenic drugs are the most common causes. In addition to these prime features, patients may also have other congenital anomalies such as hydrocephalus, ribs, and branchial arch anomalies.
Uniqueness of This Case
Gradual narrowing of abdominal aorta and a globular structure in place of urinary bladder communicating with small bowel are a very rare occurance with typical VACTERL features. Low set ears are difficult to imaging on ultrasound.
Case History
A young lady, para 2 and gravid 3 was referred to our department for targeted/anomaly/level II scan, with no previous significant history. Her gestational age according to her last menstrual period was 20 weeks 5 days.
Discussion
Of all the associations, vertebral anomalies occur in 60%–80% of cases.[6] Renal anomalies occur in 50%–80% of the cases in the form of unilateral renal agenesis, horseshoe, and cystic and/or dysplastic kidneys as our case showed no right kidney with cystic left, respectively. Genitourinary defects include ambiguous genitalia, genitourinary fistula, cryptorchidism, and hypospadias. Statistical analyses of cohorts of affected patients done by Kallen et al. suggested that there was overall less evidence for the inclusion of certain features, such as cardiac or renal anomalies.[7]
Cardiac anomalies occur in 50%–80% of cases as VSD, ASD, and tetrology of Fallot, being frequently reported defects.[8] Tracheoesophageal anomalies comprises 50%–70% of patients and they may be associated with lung anomalies. Limb anomalies occur in 40%–55% of patients and include radial ray deformities, club foot, hypoplasia of great toe/tibia and lower limb, and tibial deformities.[9]
Due to its wide variety of associations and no specific genetic defect, it becomes a diagnosis of exclusion and also results in comprehensive list of differentials. While many syndromes overlap with VACTERL, some demand special mention such as Alagille syndrome (typical facial appearance or ophthalmic anomalies), Baller–Gerold syndrome, CHARGE syndrome, Fanconi’s anemia, Feingold’s syndrome, Fryns’ syndrome, and Holt–Oram syndrome.[10]
It is important to note that the discovery of a single umbilical artery may be the first indication of the diagnosis.[11] Heterozygous mutations in HOXD13 are typically reported as resulting in limb and/or urogenital anomalies.[12] Heterozygous/hemizygous mutations in ZIC3 include obvious heterotaxy/situs abnormalities.[13] Mitochondrial dysfunction[14] have been reported as nonspecific genetic defects.
They have small risk of having several affected people in a family. The risk of relapse is likely to be relatively low as long as similar conditions with hereditary forms (such as Fanconi’s anaemia, Feingold syndrome, Holt–Oram syndrome, Townes–Brock syndrome, and VACTERL with hydrocephalus) are excluded.[15]
Low set ears were discrete findings in our case, as also shown by Weaver DD et al.[16] and Mc Cauley J et al.[17] in their studies and kept them in minor characteristic of VACTERL. Absent urinary bladder found in our case was considered extreme variety of VACTERL by Dusmet M et al.[18]
Conclusion
VACTERL association is sporadic, variable in presentation, and a rare incidenceAlthough karyotyping has not showed any promise, diagnosing by exclusion remains a mainstay with knowledge of associating conditionsAntenatal life sustain issues are to be kept in mind with postnatal rehabilitation and surgical correction shows promise.
Acknowledgement
The authors acknowledge radiodiagnosis department, SAMC and - PGI, Indore.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
